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EIF4EBP1

Synonyms
4E-BP1, 4EBP1, BP-1, PHAS-I
External resources
Summary
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
17,205
Likely benign
280
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF4EBP1 gene.

Phenotype class
Patients in 3billion (%)

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